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MYO9B myosin IXB [ Homo sapiens (human) ]

Gene ID: 4650, updated on 9-Aug-2020

Summary

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Official Symbol
MYO9Bprovided by HGNC
Official Full Name
myosin IXBprovided by HGNC
Primary source
HGNC:HGNC:7609
See related
Ensembl:ENSG00000099331 MIM:602129
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MYR5; CELIAC4
Summary
This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Expression
Broad expression in spleen (RPKM 30.6), bone marrow (RPKM 21.4) and 24 other tissues See more
Orthologs
mouse all

Genomic context

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See MYO9B in Genome Data Viewer
Location:
19p13.11
Exon count:
40
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (17075777..17213286)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17186591..17324104)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene C3 and PZP like alpha-2-macroglobulin domain containing 8 Neighboring gene RNA, 7SL, cytoplasmic 823, pseudogene Neighboring gene HAUS augmin like complex subunit 8 Neighboring gene small nucleolar RNA, H/ACA box 118 Neighboring gene unconventional SNARE in the ER 1 Neighboring gene occludin/ELL domain containing 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of phagocytosis regulators using magnetic genome-wide CRISPR screens. Haney MS, et al. Nat Genet, 2018 Dec. PMID 30397336, Free PMC Article
  2. MYO9B gene polymorphisms are associated with the risk of inflammatory bowel diseases. Wang MJ, et al. Oncotarget, 2016 Sep 13. PMID 27556856, Free PMC Article
  3. A meta-analysis of the relationship between MYO9B gene polymorphisms and susceptibility to Crohn's disease and ulcerative colitis. Li P, et al. Hum Immunol, 2016 Oct. PMID 27435931
  4. Noncanonical Myo9b-RhoGAP Accelerates RhoA GTP Hydrolysis by a Dual-Arginine-Finger Mechanism. Yi F, et al. J Mol Biol, 2016 Jul 31. PMID 27363609, Free PMC Article
  5. Lack of Association between MYO9B Gene Polymorphisms and Susceptibility to Coeliac Disease in Caucasians: Evidence from a Meta-Analysis. Chen YQ, et al. Immunol Invest, 2016 Jul. PMID 27219348

See all (80) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. findings demonstrated a key role of circMYO9B/miR-4316/FOXP4 axis in regulating breast cancer progression
    Title: Circular RNA circMYO9B facilitates breast cancer cell proliferation and invasiveness via upregulating FOXP4 expression by sponging miR-4316.
  2. Analysis of PTPN22, ZFAT and MYO9B polymorphisms in Turner Syndrome and risk of autoimmune disease.
    Title: Analysis of PTPN22, ZFAT and MYO9B polymorphisms in Turner Syndrome and risk of autoimmune disease.
  3. data indicate that polymorphisms in MY09B are associated with the risk of inflammatory bowel disease
    Title: MYO9B gene polymorphisms are associated with the risk of inflammatory bowel diseases.
  4. Mutating either of the two arginine fingers impaired the catalytic activity of Myo9b-RhoGAP.
    Title: Noncanonical Myo9b-RhoGAP Accelerates RhoA GTP Hydrolysis by a Dual-Arginine-Finger Mechanism.
  5. meta-analysis indicates that MYO9B gene polymorphisms might be not associated with coeliac disease susceptibility in Caucasians. [meta-analysis]
    Title: Lack of Association between MYO9B Gene Polymorphisms and Susceptibility to Coeliac Disease in Caucasians: Evidence from a Meta-Analysis.
  6. this meta-analysis shows that MYO9B genetic polymorphism is associated with Crohn's disease and ulcerative colitis
    Title: A meta-analysis of the relationship between MYO9B gene polymorphisms and susceptibility to Crohn's disease and ulcerative colitis.
  7. newly defined SLIT/ROBO/Myo9b/RhoA signaling pathway that restricts lung cancer progression and metastasis.
    Title: Myo9b is a key player in SLIT/ROBO-mediated lung tumor suppression.
  8. Our data suggest a link between MYO9B variants to an increased intestinal permeability in Crohn's disease patients.
    Title: Myosin IXb variants and their pivotal role in maintaining the intestinal barrier: a study in Crohn's disease.
  9. Results does not support the association of MYO9B with schizophrenia in Chinese population.
    Title: Lack of genetic association between the MYO9B locus and schizophrenia in a Chinese population.
  10. MYO9B SNPs may influence the sub-phenotypic expression of Crohn's disease but did not find an association between these MYO9B polymorphisms and intestinal permeability in IBD.
    Title: Association of MYO9B gene polymorphisms with inflammatory bowel disease in Chinese Han population.
Submit: New GeneRIF Correction See all GeneRIFs (39)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Celiac disease 4
MedGen: C1857847 OMIM: 609753 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
NHGRI GWA Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP binding IDA
Inferred from Direct Assay
more info
 PubMed 
ATP binding IDA
Inferred from Direct Assay
more info
 PubMed 
ATPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
GTPase activator activity TAS
Traceable Author Statement
more info
  
Rho GTPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Roundabout binding IPI
Inferred from Physical Interaction
more info
 PubMed 
actin binding IDA
Inferred from Direct Assay
more info
 PubMed 
calmodulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
  
microfilament motor activity IDA
Inferred from Direct Assay
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
NOT protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
NOT ARF protein signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
Rho protein signal transduction IC
Inferred by Curator
more info
 PubMed 
Roundabout signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
actin filament-based movement IDA
Inferred from Direct Assay
more info
 PubMed 
actin filament-based movement TAS
Traceable Author Statement
more info
 PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
  
regulation of Rho protein signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
actin filament IDA
Inferred from Direct Assay
more info
 PubMed 
cell cortex IDA
Inferred from Direct Assay
more info
 PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
cytosol IDA
Inferred from Direct Assay
more info
  
cytosol TAS
Traceable Author Statement
more info
  
membrane HDA PubMed 
myosin complex IEA
Inferred from Electronic Annotation
more info
  
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
unconventional myosin-IXb
Names
myosin-IXb
unconventional myosin-9b

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013068.1 RefSeqGene

    Range
    4997..142505
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130065.2 → NP_001123537.1  unconventional myosin-IXb isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region due to the use of an alternate splice site in the penultimate exon. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AB209997, AC020908, BC018108, BF905466, BI001923, BI827217, CN284963, DR006748
    Consensus CDS
    CCDS46010.1
    UniProtKB/TrEMBL
    Q4LE74, Q8WVD2
    Related
    ENSP00000471457.1, ENST00000595618.5
    Conserved Domains (6) summary
    cd01779
    Location:7 → 112
    Myosin_IXb_RA; ubitquitin-like domain of Myosin_IXb_RA
    smart00015
    Location:1000 → 1022
    IQ; Calmodulin-binding motif
    smart00242
    Location:141 → 950
    MYSc; Myosin. Large ATPases
    cd00029
    Location:1633 → 1681
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd04407
    Location:1698 → 1883
    RhoGAP_myosin_IXB; RhoGAP_myosin_IXB: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in myosins IXB. Class IX myosins contain a characteristic head domain, a neck domain and a tail domain which contains a C6H2-zinc binding motif and a ...
    cd01385
    Location:160 → 941
    MYSc_Myo9; class IX myosin, motor domain

  2. NM_004145.4 → NP_004136.2  unconventional myosin-IXb isoform 1

    See identical proteins and their annotated locations for NP_004136.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB290184, AC020908, BC018108, BF905466, BI001923, BI827217, CN284963, DR006748
    UniProtKB/Swiss-Prot
    Q13459
    UniProtKB/TrEMBL
    B0I1T6, Q8WVD2
    Related
    ENSP00000471367.1, ENST00000594824.5
    Conserved Domains (6) summary
    cd01779
    Location:7 → 112
    Myosin_IXb_RA; ubitquitin-like domain of Myosin_IXb_RA
    smart00015
    Location:1000 → 1022
    IQ; Calmodulin-binding motif
    smart00242
    Location:141 → 950
    MYSc; Myosin. Large ATPases
    cd00029
    Location:1633 → 1681
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd04407
    Location:1698 → 1883
    RhoGAP_myosin_IXB; RhoGAP_myosin_IXB: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in myosins IXB. Class IX myosins contain a characteristic head domain, a neck domain and a tail domain which contains a C6H2-zinc binding motif and a ...
    cd01385
    Location:160 → 941
    MYSc_Myo9; class IX myosin, motor domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    17075777..17213286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13459.3 GenPept UniProtKB/Swiss-Prot:Q13459

Gene LinkOut

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